Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 12

Results: 28

Fate of induced pluripotent stem cells following transplantation to murine seminiferous tubules.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3071, doi. 10.1093/hmg/ddu012
By:
- Durruthy Durruthy, Jens;
- Ramathal, Cyril;
- Sukhwani, Meena;
- Fang, Fang;
- Cui, Jun;
- Orwig, Kyle E.;
- Reijo Pera, Renee A.
Publication type:
Article
Subscription Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. NP, doi. 10.1093/hmg/ddu263
Publication type:
Article
Contents Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. NP, doi. 10.1093/hmg/ddu260
Publication type:
Article
A distinct set of long non-coding RNAs in childhood MLL-rearranged acute lymphoblastic leukemia: biology and epigenetic target.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3278, doi. 10.1093/hmg/ddu040
By:
- Fang, Ke;
- Han, Bo-Wei;
- Chen, Zhen-Hua;
- Lin, Kang-Yu;
- Zeng, Cheng-Wu;
- Li, Xiao-Juan;
- Li, Jun-Hao;
- Luo, Xue-Qun;
- Chen, Yue-Qin
Publication type:
Article
Fat mass and obesity-associated (FTO) protein interacts with CaMKII and modulates the activity of CREB signaling pathway.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3299, doi. 10.1093/hmg/ddu043
By:
- Lin, Li;
- Hales, Chadwick M.;
- Garber, Kathryn;
- Jin, Peng
Publication type:
Article
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3316
By:
- Morris, Derek W.;
- Pearson, Richard D.;
- Cormican, Paul;
- Kenny, Elaine M.;
- O'Dushlaine, Colm T.;
- Perreault, Louis-Philippe Lemieux;
- Giannoulatou, Eleni;
- Tropea, Daniela;
- Maher, Brion S.;
- Wormley, Brandon;
- Kelleher, Eric;
- Fahey, Ciara;
- Molinos, Ines;
- Bellini, Stefania;
- Pirinen, Matti;
- Strange, Amy;
- Freeman, Colin;
- Thiselton, Dawn L.;
- Elves, Rachel L.;
- Regan, Regina
Publication type:
Article
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3102, doi. 10.1093/hmg/ddu014
By:
- Conley, Shannon M.;
- Stuck, Michael W.;
- Burnett, Justin L.;
- Chakraborty, Dibyendu;
- Azadi, Seifollah;
- Fliesler, Steven J.;
- Naash, Muna I.
Publication type:
Article
Cover Page.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. NP, doi. 10.1093/hmg/ddu261
Publication type:
Article
Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3157, doi. 10.1093/hmg/ddu026
By:
- Angeles, Dario C.;
- Ho, Patrick;
- Chua, Ling Ling;
- Wang, Cheng;
- Yap, Yan Wann;
- Ng, Cheehoe;
- Zhou, Zhi dong;
- Lim, Kah-Leong;
- Wszolek, Zbigniew K.;
- Wang, Hong Y.;
- Tan, Eng King
Publication type:
Article
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3289
By:
- Santos-Cortez, Regie Lyn P.;
- Lee, Kwanghyuk;
- Giese, Arnaud P.;
- Ansar, Muhammad;
- Amin-Ud-Din, Muhammad;
- Rehn, Kira;
- Wang, Xin;
- Aziz, Abdul;
- Chiu, Ilene;
- Hussain Ali, Raja;
- Smith, Joshua D.;
- Shendure, Jay;
- Bamshad, Michael;
- Nickerson, Deborah A.;
- Ahmed, Zubair M.;
- Ahmad, Wasim;
- Riazuddin, Saima;
- Leal, Suzanne M.
Publication type:
Article
Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3212, doi. 10.1093/hmg/ddu031
By:
- Tilot, Amanda K.;
- Gaugler, Mary K.;
- Yu, Qi;
- Romigh, Todd;
- Yu, Wanfeng;
- Miller, Robert H.;
- Frazier, Thomas W.;
- Eng, Charis
Publication type:
Article
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3307, doi. 10.1093/hmg/ddu044
By:
- Aldahmesh, Mohammed A.;
- Li, Yuanyuan;
- Alhashem, Amal;
- Anazi, Shams;
- Alkuraya, Hisham;
- Hashem, Mais;
- Awaji, Ali A.;
- Sogaty, Sameera;
- Alkharashi, Abdullah;
- Alzahrani, Saeed;
- Al Hazzaa, Selwa A.;
- Xiong, Yong;
- Kong, Shanshan;
- Sun, Zhaoxia;
- Alkuraya, Fowzan S.
Publication type:
Article
A genome-wide association study of intra-ocular pressure suggests a novel association in the gene FAM125B in the TwinsUK cohort.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3343
By:
- Nag, Abhishek;
- Venturini, Cristina;
- Small, Kerrin S.;
- Young, Terri L.;
- Viswanathan, Ananth C.;
- Mackey, David A.;
- Hysi, Pirro G.;
- Hammond, Christopher
Publication type:
Article
Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3115, doi. 10.1093/hmg/ddu021
By:
- Grunert, Marcel;
- Dorn, Cornelia;
- Schueler, Markus;
- Dunkel, Ilona;
- Schlesinger, Jenny;
- Mebus, Siegrun;
- Alexi-Meskishvili, Vladimir;
- Perrot, Andreas;
- Wassilew, Katharina;
- Timmermann, Bernd;
- Hetzer, Roland;
- Berger, Felix;
- Sperling, Silke R.
Publication type:
Article
Partial restoration of cardiac function with ΔPDZ nNOS in aged mdx model of Duchenne cardiomyopathy.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3189, doi. 10.1093/hmg/ddu029
By:
- Lai, Yi;
- Zhao, Junling;
- Yue, Yongping;
- Wasala, Nalinda B.;
- Duan, Dongsheng
Publication type:
Article
Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3085, doi. 10.1093/hmg/ddu013
By:
- Muir, Alison M.;
- Ren, Yinshi;
- Butz, Delana Hopkins;
- Davis, Nicholas A.;
- Blank, Robert D.;
- Birk, David E.;
- Lee, Se-Jin;
- Rowe, David;
- Feng, Jian Q.;
- Greenspan, Daniel S.
Publication type:
Article
Human skeletal muscle xenograft as a new preclinical model for muscle disorders.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3180, doi. 10.1093/hmg/ddu028
By:
- Zhang, Yuanfan;
- King, Oliver D.;
- Rahimov, Fedik;
- Jones, Takako I.;
- Ward, Christopher W.;
- Kerr, Jaclyn P.;
- Liu, Naili;
- Emerson, Charles P.;
- Kunkel, Louis M.;
- Partridge, Terence A.;
- Wagner, Kathryn R.
Publication type:
Article
Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of Huntingtin.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3166, doi. 10.1093/hmg/ddu027
By:
- Martin, Dale D.O.;
- Heit, Ryan J.;
- Yap, Megan C.;
- Davidson, Michael W.;
- Hayden, Michael R.;
- Berthiaume, Luc G.
Publication type:
Article
Meta-analysis of loci associated with age at natural menopause in African-American women.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3327, doi. 10.1093/hmg/ddu041
By:
- Chen, Christina T.L.;
- Liu, Ching-Ti;
- Chen, Gary K.;
- Andrews, Jeanette S.;
- Arnold, Alice M.;
- Dreyfus, Jill;
- Franceschini, Nora;
- Garcia, Melissa E.;
- Kerr, Kathleen F.;
- Li, Guo;
- Lohman, Kurt K.;
- Musani, Solomon K.;
- Nalls, Michael A.;
- Raffel, Leslie J.;
- Smith, Jennifer;
- Ambrosone, Christine B.;
- Bandera, Elisa V.;
- Bernstein, Leslie;
- Britton, Angela;
- Brzyski, Robert G.
Publication type:
Article
Editorial Board.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. NP, doi. 10.1093/hmg/ddu262
Publication type:
Article
Long-term treatment with naproxcinod significantly improves skeletal and cardiac disease phenotype in the mdx mouse model of dystrophy.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3239, doi. 10.1093/hmg/ddu033
By:
- Uaesoontrachoon, Kitipong;
- Quinn, James L;
- Tatem, Kathleen S;
- Van Der Meulen, Jack H;
- Yu, Qing;
- Phadke, Aditi;
- Miller, Brittany K;
- Gordish-Dressman, Heather;
- Ongini, Ennio;
- Miglietta, Daniela;
- Nagaraju, Kanneboyina
Publication type:
Article
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3269, doi. 10.1093/hmg/ddu038
By:
- Carss, Keren J.;
- Hillman, Sarah C.;
- Parthiban, Vijaya;
- McMullan, Dominic J.;
- Maher, Eamonn R.;
- Kilby, Mark D.;
- Hurles, Matthew E.
Publication type:
Article
CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3228, doi. 10.1093/hmg/ddu032
By:
- Ludwig, Anna Lisa;
- Espinal, Glenda M.;
- Pretto, Dalyir I.;
- Jamal, Amanda L.;
- Arque, Gloria;
- Tassone, Flora;
- Berman, Robert F.;
- Hagerman, Paul J.
Publication type:
Article
Copy-number variation of the neuronal glucose transporter gene SLC2A3 and age of onset in Huntington's disease.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3129
By:
- Vittori, Angelica;
- Breda, Carlo;
- Repici, Mariaelena;
- Orth, Michael;
- Roos, Raymund A.C.;
- Outeiro, Tiago F.;
- Giorgini, Flaviano;
- Hollox, Edward J.
Publication type:
Article
microRNA-224 regulates Pentraxin 3, a component of the humoral arm of innate immunity, in inner ear inflammation.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3138, doi. 10.1093/hmg/ddu023
By:
- Rudnicki, Anya;
- Shivatzki, Shaked;
- Beyer, Lisa A.;
- Takada, Yohei;
- Raphael, Yehoash;
- Avraham, Karen B.
Publication type:
Article
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3200
By:
- Martin, Hilary C.;
- Kim, Grace E.;
- Pagnamenta, Alistair T.;
- Murakami, Yoshiko;
- Carvill, Gemma L.;
- Meyer, Esther;
- Copley, Richard R.;
- Rimmer, Andrew;
- Barcia, Giulia;
- Fleming, Matthew R.;
- Kronengold, Jack;
- Brown, Maile R.;
- Hudspith, Karl A.;
- Broxholme, John;
- Kanapin, Alexander;
- Cazier, Jean-Baptiste;
- Kinoshita, Taroh;
- Nabbout, Rima;
- Bentley, David;
- McVean, Gil
Publication type:
Article
Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3250, doi. 10.1093/hmg/ddu034
By:
- Lattanzi, Annalisa;
- Salvagno, Camilla;
- Maderna, Claudio;
- Benedicenti, Fabrizio;
- Morena, Francesco;
- Kulik, Willem;
- Naldini, Luigi;
- Montini, Eugenio;
- Martino, Sabata;
- Gritti, Angela
Publication type:
Article
Glycogen accumulation underlies neurodegeneration and autophagy impairment in Lafora disease.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 12, p. 3147, doi. 10.1093/hmg/ddu024
By:
- Duran, Jordi;
- Gruart, Agnès;
- García-Rocha, Mar;
- Delgado-García, José M.;
- Guinovart, Joan J.
Publication type:
Article